Pgt-a

[hereshoping123]

Hi,

Is there anyone on here who can help or advise me on my recent pgt results please

I've gone through it. What is it you need help with x

@CR7 thanks so much for replying.
So one of my embryos results are

Segmental monosomy 11q21qter (39 Mb).

I know it means it's missing some of chromosome 11. But the rest I'm not too sure. I was feeling hopeful that I could transfer it but genetic counsellor has me turned off now saying only 25% of healthy baby

This I hadn't heard of so I googled it.

rarediseases.org/rare-diseases/chromosome-11-partial-monosomy-11q/

Not sure if it will help you xx

The range and severity of symptoms varies, greatly depending on the exact location and size of the missing genetic material. Symptoms commonly associated with partial monosomy 11q include abnormally slow growth before and after birth (prenatal and postnatal growth delay), moderate to severe delay in skills requiring coordination of mental and muscular activity and intellectual disability Most affected persons have mild to severe intellectual disability but rarely, individuals may have normal-borderline intelligence. Characteristic physical abnormalities may include short stature, unusual shape of the head and face (craniofacial dysmorphism), hands, feet, and congenital abnormality of the heart, ears, kidneys and genitalia. Bleeding due to platelet abnormalities and immunological defects are very common. The exact cause at the origin of partial loss of 11q is not fully understood.

Copied and pasted for you

There is a group on fb called my perfect euploid embryo.

Before a transfer I'd recommend you speak with a genetic counsellor, I can recommend this one. www.dnaide.com you send the report and she will provide you all the information you need to understand the chance of success and the risk of a live birth of the child has the issue.

@hereshoping123 how are you xx

@CR7 Awh thank you, I'm doing ok. Lovely to know someone is thinking of me. Hope your doing ok?

We have decided to do one more EC. I've done LOADS of research about my results and I don't feel it's too bad based on what I've been told.

I joined the group that was mentioned and I got loads of great feedback 😊 made me feel so much better.

I had such a headache trying to learn all about basic biology and chromosomes etc

I'm glad you're in a good place. All ok here too. Fingers crossed your ec goes well. So glad the group was helpful xx